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Mutation analysis of the adenomatous polyposis coli (APC) gene in northwest Spanish patients with familial adenomatous polyposis (FAP) and sporadic colorectal cancer.
Hum Mutat. 2001 Oct; 18(4):355.HM

Abstract

Germline mutations in the tumor-suppresor APC gene are associated with hereditary familial adenomatous polyposis (FAP) and somatic mutations are common in sporadic colorectal cancer. In this study, we report the identification of three novel germline mutations: 1682-1683insA, 3252-3253insAT, 3544A>T and a new somatic mutation 4130-4131delTT, all giving rise to truncated APC proteins. The majority of the mutations we found originate a truncated APC protein and cause the FAP phenotype. However, special attention must be given to the missense mutations Asp1822Val and Ser2621Cys since their segregation with the FAP phenotype is questionable. In our FAP families we did not find any genetical alterations at codon 1309, being this mutation the most frequent reported in APC. Differences in the recurrence of pathological mutations in APC could exist among populations. However, epidemiological studies must be performed to confirm this hypothesis.

Authors+Show Affiliations

Unidad de Medicina Molecular (Ingo, Sergas), 15706 Universidad de Santiago de Compostela, Spain. crponte@usc.esNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

11668620

Citation

Ruiz-Ponte, C, et al. "Mutation Analysis of the Adenomatous Polyposis Coli (APC) Gene in Northwest Spanish Patients With Familial Adenomatous Polyposis (FAP) and Sporadic Colorectal Cancer." Human Mutation, vol. 18, no. 4, 2001, p. 355.
Ruiz-Ponte C, Vega A, Carracedo A, et al. Mutation analysis of the adenomatous polyposis coli (APC) gene in northwest Spanish patients with familial adenomatous polyposis (FAP) and sporadic colorectal cancer. Hum Mutat. 2001;18(4):355.
Ruiz-Ponte, C., Vega, A., Carracedo, A., & Barros, F. (2001). Mutation analysis of the adenomatous polyposis coli (APC) gene in northwest Spanish patients with familial adenomatous polyposis (FAP) and sporadic colorectal cancer. Human Mutation, 18(4), 355.
Ruiz-Ponte C, et al. Mutation Analysis of the Adenomatous Polyposis Coli (APC) Gene in Northwest Spanish Patients With Familial Adenomatous Polyposis (FAP) and Sporadic Colorectal Cancer. Hum Mutat. 2001;18(4):355. PubMed PMID: 11668620.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Mutation analysis of the adenomatous polyposis coli (APC) gene in northwest Spanish patients with familial adenomatous polyposis (FAP) and sporadic colorectal cancer. AU - Ruiz-Ponte,C, AU - Vega,A, AU - Carracedo,A, AU - Barros,F, PY - 2001/10/23/pubmed PY - 2002/1/23/medline PY - 2001/10/23/entrez SP - 355 EP - 355 JF - Human mutation JO - Hum. Mutat. VL - 18 IS - 4 N2 - Germline mutations in the tumor-suppresor APC gene are associated with hereditary familial adenomatous polyposis (FAP) and somatic mutations are common in sporadic colorectal cancer. In this study, we report the identification of three novel germline mutations: 1682-1683insA, 3252-3253insAT, 3544A>T and a new somatic mutation 4130-4131delTT, all giving rise to truncated APC proteins. The majority of the mutations we found originate a truncated APC protein and cause the FAP phenotype. However, special attention must be given to the missense mutations Asp1822Val and Ser2621Cys since their segregation with the FAP phenotype is questionable. In our FAP families we did not find any genetical alterations at codon 1309, being this mutation the most frequent reported in APC. Differences in the recurrence of pathological mutations in APC could exist among populations. However, epidemiological studies must be performed to confirm this hypothesis. SN - 1098-1004 UR - https://www.unboundmedicine.com/medline/citation/11668620/Mutation_analysis_of_the_adenomatous_polyposis_coli__APC__gene_in_northwest_Spanish_patients_with_familial_adenomatous_polyposis__FAP__and_sporadic_colorectal_cancer_ L2 - https://doi.org/10.1002/humu.1198 DB - PRIME DP - Unbound Medicine ER -